5-alpha-reductase deficiency natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Complications

With 5-ARD there is a risk of gender identity disorder as well as infertility, due to underdevelopment of seminal vesicles and prostate.

Gender identity disorder

Although most people with 5-ARD identify themselves as females, some, however, may develop a male gender identity coinciding the with the pubertal virilisation, or can present themselves with apparent gender dysphoria and transgender behavior. Most cases of gender (role) changes have been reported in large families in the Dominican Republic and Sao Pablo. It is unclear if these patients had the means or possibilities to be treated against virilisation. In some cultures it seems to be socially more beneficial to be a man, than an infertile woman. It is unclear whether this has played any part in the above mentioned gender changes.

Infertility

There is an increased risk of cryptorchidism in 5-ARD, causing infertility, but also a higher risk of testicular cancer. Fertility is further compromised by the underdevelopment of seminal vesicles and prostate.

On the other hand, fertility depending on the female characteristics are impossible; Although the external genitalia appear female, the "pseudovagina" consists only of the lower two-thirds of a normal vagina; creating a blind-ending vaginal pouch. Due to the normal action of Müllerian inhibiting factor produced by the testis in utero, individuals with 5-ARD lack a uterus and Fallopian tubes. Thus, individuals with 5-ARD are not able to become pregnant or produce ova.

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